Resultats de la cerca - Karakaya, Mert

Behavioral Teleporting of Individual Ethograms onto Inanimate Robots: Experiments on Social Interactions in Live Zebrafish per Karakaya, Mert, Macrì, Simone, Porfiri, Maurizio

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Acute Citalopram administration alters zebrafish social dynamics in a behavioral teleporting experiment per Karakaya, Mert, Macrì, Simone, Porfiri, Maurizio

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Acute Citalopram administration modulates anxiety in response to the context associated with a robotic stimulus in zebrafish per Karakaya, Mert, Scaramuzzi, Andrea, Macrì, Simone, Porfiri, Maurizio

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A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop per Karakaya, Mert, Ceyhan-Birsoy, Ozge, Beggs, Alan H., Topaloglu, Haluk

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Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies per Yis, Uluç, Baydan, Figen, Karakaya, Mert, Hız Kurul, Semra, Cirak, Sebahattin

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Behavioural and life-history responses of mosquitofish to biologically inspired and interactive robotic predators per Polverino, Giovanni, Karakaya, Mert, Spinello, Chiara, Soman, Vrishin R., Porfiri, Maurizio

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Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia per Alawbathani, Salem, Kawalia, Amit, Karakaya, Mert, Altmüller, Janine, Nürnberg, Peter, Cirak, Sebahattin

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Ecology of fear in highly invasive fish revealed by robots per Polverino, Giovanni, Soman, Vrishin R., Karakaya, Mert, Gasparini, Clelia, Evans, Jonathan P., Porfiri, Maurizio

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VPS13D: One Family, Same Mutations, Two Phenotypes per Petry‐Schmelzer, Jan Niklas, Keller, Natalie, Karakaya, Mert, Wirth, Brunhilde, Fink, Gereon R., Wunderlich, Gilbert

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Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis per Fazeli, Walid, Karakaya, Mert, Herkenrath, Peter, Vierzig, Anne, Dötsch, Jörg, von Kleist-Retzow, Jürgen-Christoph, Cirak, Sebahattin

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Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement per Ceyhan-Birsoy, Ozge, Talim, Beril, Swanson, Lindsay C., Karakaya, Mert, Graff, Michelle A., Beggs, Alan H., Topaloglu, Haluk

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Novel mutations in SLC6A5 with benign course in hyperekplexia per Dafsari, Hormos Salimi, Kawalia, Amit, Sprute, Rosanne, Karakaya, Mert, Malenica, Anna, Herkenrath, Peter, Nürnberg, Peter, Motameny, Susanne, Thiele, Holger, Cirak, Sebahattin

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Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation per Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bönnemann, Carsten G., Yis, Uluc, Wirth, Brunhilde

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Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function per Mendoza-Ferreira, Natalia, Coutelier, Marie, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Löhr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni, Wirth, Brunhilde

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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation per Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde

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Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization per Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome per Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome per Ghosh, Shereen G., Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

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Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome per Ghosh, Shereen G., Becker, Kerstin, Huang, He, Salazar, Tracy D., Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K., Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M., Efthymiou, Stephanie, Hanna, Michael G., Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B., Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M., Wolf, Nicole I., Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G.

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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy per Pagnamenta, Alistair T, Kaiyrzhanov, Rauan, Zou, Yaqun, Da'as, Sahar I, Maroofian, Reza, Donkervoort, Sandra, Dominik, Natalia, Lauffer, Marlen, Ferla, Matteo P, Orioli, Andrea, Giess, Adam, Tucci, Arianna, Beetz, Christian, Sedghi, Maryam, Ansari, Behnaz, Barresi, Rita, Basiri, Keivan, Cortese, Andrea, Elgar, Greg, Fernandez-Garcia, Miguel A, Yip, Janice, Foley, A Reghan, Gutowski, Nicholas, Jungbluth, Heinz, Lassche, Saskia, Lavin, Tim, Marcelis, Carlo, Marks, Peter, Marini-Bettolo, Chiara, Medne, Livija, Moslemi, Ali-Reza, Sarkozy, Anna, Reilly, Mary M, Muntoni, Francesco, Millan, Francisca, Muraresku, Colleen C, Need, Anna C, Nemeth, Andrea H, Neuhaus, Sarah B, Norwood, Fiona, O'Donnell, Marie, O’Driscoll, Mary, Rankin, Julia, Yum, Sabrina W, Zolkipli-Cunningham, Zarazuela, Brusius, Isabell, Wunderlich, Gilbert, Karakaya, Mert, Wirth, Brunhilde, Fakhro, Khalid A, Tajsharghi, Homa, Bönnemann, Carsten G, Taylor, Jenny C, Houlden, Henry

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